par Van Schil, Kristof;Meire, Françoise ;Karlstetter, Marcus;Bauwens, Miriam;Verdin, Hannah;Coppieters, Frauke;Scheiffert, Eva;Van Nechel, Christian ;Langmann, Thomas;Deconinck, Nicolas ;De Baere, Elfride
Référence Genetics in medicine
Publication Publié, 2014-08
Référence Genetics in medicine
Publication Publié, 2014-08
Article révisé par les pairs
Titre: |
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Auteur: | Van Schil, Kristof; Meire, Françoise; Karlstetter, Marcus; Bauwens, Miriam; Verdin, Hannah; Coppieters, Frauke; Scheiffert, Eva; Van Nechel, Christian; Langmann, Thomas; Deconinck, Nicolas; De Baere, Elfride |
Informations sur la publication: | Genetics in medicine |
Statut de publication: | Publié, 2014-08 |
Sujet CREF: | Sciences bio-médicales et agricoles |
Mots-clés: | autosomal recessive cerebellar ataxia |
glutamate receptor | |
GRID2 | |
hotfoot | |
retinal dystrophy | |
MeSH keywords: | Animals |
Child, Preschool | |
DNA Copy Number Variations -- genetics | |
Exons -- genetics | |
Female | |
Gene Expression Regulation | |
High-Throughput Nucleotide Sequencing | |
Humans | |
Infant | |
Mice | |
Pedigree | |
Receptors, Glutamate -- biosynthesis -- genetics | |
Retina -- metabolism -- pathology | |
Retinal Dystrophies -- complications -- genetics -- pathology | |
Sequence Deletion | |
Spinocerebellar Degenerations -- complications -- genetics -- pathology | |
Note générale: | SCOPUS: ar.j |
Langue: | Anglais |
Identificateurs: | urn:issn:1098-3600 |
info:doi/10.1038/gim.2014.95 | |
info:pii/gim201495 | |
info:scp/84926507307 | |
info:pmid/25122145 |